1. Technical Field
This document provides methods and materials related to identifying, assessing, and predicting hypertrophic cardiomyopathy (HCM) in mammals. For example, this document provides methods and materials for using mutations (e.g., mutations in ZASP and MYBPC3 nucleic acids) to identify, assess, and predict HCM in mammals (e.g., humans).
2. Background Information
Once thought to be a rare disease, HCM is now understood as a relatively common, potentially heritable disorder affecting about 1 in 500 people. Although the overall annual incidence of sudden death is around one percent, HCM represents the most common identifiable cause of sudden death in young people. HCM is characterized morphologically by thickening of the left ventricular wall, fibrosis, and myocyte disarray in the absence of extenuating extrinsic factors such as hypertension and aortic valve disease. The clinical presentation is underscored by pronounced phenotypic heterogeneity ranging from an asymptomatic course to sudden cardiac death during childhood.